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Fetal anomalies

Gene: GBA

Green List (high evidence)
GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Created: 30 Jun 2022, 3:18 p.m. | Last Modified: 30 Jun 2022, 4:15 p.m.
Panel Version: 1.871
Created: 30 Jun 2022, 3:18 p.m.
Last Modified: 30 Jun 2022, 4:15 p.m.
Panel version: 1.871

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Homozygous variant identified in GBA from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:16 p.m.
GBA was on the Fetal anomalies panel as an Amber gene based on the DD-Gene2Phenotype rating of 'both DD and IF' for Gaucher diseases. Changed rating from Amber to Green based on Green rating on 'Fetal hydrops' panel (V.16). Lyn Chitty (Great Ormond Street) confirmed that this gene should be included on the Fetal anomalies panel.
Created: 11 Mar 2019, 9:08 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for GAUCHER DISEASE TYPE 1, GAUCHER DISEASE TYPE 3C, GAUCHER DISEASE TYPE 2, GAUCHER DISEASE PERINATAL LETHAL, GAUCHER DISEASE TYPE 3 and GAUCHER DISEASE.
Created: 6 Dec 2018, 10:07 a.m.
Created: 6 Dec 2018, 10:07 a.m.

Panel version: 0.176

History Filter Activity

30 Jun 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: GBA.

18 Apr 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GBA were set to

11 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: gba has been classified as Green List (High Evidence).

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to GBA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE for gene: GBA

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE TYPE 3 for gene: GBA

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE PERINATAL LETHAL for gene: GBA

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE TYPE 2 for gene: GBA

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GAUCHER DISEASE TYPE 3C for gene: GBA

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GBA was added gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1